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Scots scientists uncover genetic cause for Parkinson’s Disease in breakthrough which could lead to new treatments

Scots scientists uncover genetic cause for Parkinson’s Disease in breakthrough which could lead to new treatments 9008023



Scottish researchers have made a breakthrough in the treatment of Parkinson’s disease which could result in better treatments which could prevent it developing, or possibly halt or reverse the progress of the disease in those already showing symptoms.

Parkinson’s is a progressive neurological disorder caused by cell death in part of the brain, with physically disabling effects and no known cure. It affects around 145,000 people in the UK.

But work carried out by scientists at the University of Dundee has confirmed that a cellular pathway that normally protects the brain from damage is compromised in Parkinson’s patients.

A team headed by Professor Miratul Muqit, sought out patients around the world with a rare genetic mutation in an attempt to confirm a suspected cause of the debilitating disease which commonly affects people aged 60 or over.

Experiments on mice had indicated a mutation affecting a gene called PINK1 and another called Parkin are critical to helping the body shut down cells in the brain when they go wrong. Sensing when cells are damaged PINK1 is able to switch on the Parkin Gene, which produces enzymes, ultimately preventing further deterioration.

However it was thought that this process is failing in Parkinson’s patients.

Professor Muqit, consultant Neurologist at the University’s cutting edge MRC Protein Phosphorylation and Ubiquitylation Unit (MRC-PPU), and his team were able to confirm this by locating patients with rare mutations in the Parkin gene that precisely disrupt the ability of PINK1 to switch the Parkin enzyme on.

He said: “We did not know whether this pathway really was key in the development of Parkinson’s.

“The probability of finding rare patients with the critical mutation to test in the lab was as low as 1 in 3 billion so we are grateful to our collaborators who helped identify these rare patients who have helped us finally answer this question.

“There is currently great interest to directly target PINK1 and Parkin as a potential therapy against Parkinson’s and this study strongly backs the rationale of this approach.”

Together with researchers at the University of Helsinki, the team tracked down a Finnish patient who had developed early-onset Parkinson’s and were able to obtain cells from the patient that revealed that the activity of the Parkin enzyme was defective thereby confirming this as a cause for their Parkinson’s.

A second patient in the United States was identified from the Progressive Parkinson’s Markers Initiative study, coordinated by the Michael J Fox Foundation.

Professor Dario Alessi, Director of the MRC-PPU, “This is a wonderful and high-quality study that provides crystal clear fundamental information on how mutations in PINK1 and Parkin genes cause Parkinson’s disease. This is the result of six years of painstaking research by Professor Muqit and his lab and lays the groundwork for the development of new treatments for Parkinson’s disease.”

Annie Macleod, Scotland Director at Parkinson’s UK, said: “This latest breakthrough puts research in Scotland at the centre of a global network of scientists working to unravel the mysteries behind Parkinson’s and drive towards a cure.

“For people with Parkinson’s this research opens the door for potential drug treatments that could prevent, halt and possibly reverse the progression of Parkinson’s symptoms.”


Source : HeraldScotland

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